Canonical Allele Identifier: CA8690157
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs751956258
ExAC: 17:59667905 A / G
gnomAD v2: 17-59667905-A-G
gnomAD v3: 17-61590544-A-G
gnomAD v4: 17-61590544-A-G
MyVariant Identifiers: chr17:g.59667905A>G (hg19) chr17:g.61590544A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590544A>G , CM000679.2:g.61590544A>G GRCh38
NC_000017.10:g.59667905A>G , CM000679.1:g.59667905A>G GRCh37
NC_000017.9:g.57022687A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.637T>C MANE Select ENSP00000427802.1:p.Leu213=
ENST00000521764.2:c.637T>C ENSP00000427802.1:p.Leu213=
NM_199290.3:c.637T>C NP_954984.1:p.Leu213=
NM_199290.4:c.637T>C MANE Select NP_954984.1:p.Leu213=
Search 100 bp 5'
Search 100 bp 3'